AI Article Synopsis
- The porphyrias are a diverse group of metabolic disorders caused mainly by genetic issues affecting enzymes in heme production.
- Recent research using lab and animal models has improved understanding of these disorders and led to potential treatment methods like pathway interference, enzyme replacement, and gene therapy.
- Advances in basic science are driving the development of new diagnostic tools and therapies that could be available soon.
Article Abstract
The porphyrias are clinically and genetically heterogeneous metabolic disorders resulting from a predominantly hereditary dysfunction of specific enzymes involved in heme biosynthesis. Today, the clinical, biochemical, and genetic characteristics of this fascinating group of diseases are well established. Recently, different in vitro and animal models have facilitated the investigation of etiopathologic mechanisms in the different types of porphyria and the development of causal treatment strategies such as pathway interference, enzyme replacement, and gene therapy. The continuous progress in basic science has made an invaluable contribution to the rapid translation of discoveries made in the laboratory into new diagnostics and therapeutics in the near future.
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| http://dx.doi.org/10.1159/000257260 | DOI Listing |
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